scholarly journals Perspectives and ethical considerations for return of genetics and genomics research results: a qualitative study of genomics researchers in Uganda

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Joseph Ochieng ◽  
Betty Kwagala ◽  
John Barugahare ◽  
Erisa Mwaka ◽  
Deborah Ekusai-Sebatta ◽  
...  
Keyword(s):  
Qualitative Study ◽  
Genomic Research ◽  
Return Of Results ◽  
Ethical Guidelines ◽  
Ethical Considerations ◽  
Research Results ◽  
Regulatory Frameworks ◽  
Genomics Research ◽  
Genetics And Genomics ◽  
Clinically Significant

Abstract Background The return of genetics and genomics research results has been a subject of ongoing global debate. Such feedback is ethically desirable to update participants on research findings particularly those deemed clinically significant. Although there is limited literature, debate continues in African on what constitutes appropriate practice regarding the return of results for genetics and genomics research. This study explored perspectives and ethical considerations of Ugandan genomics researchers regarding the return of genetics and genomics research results. Methods This was a qualitative study that employed in-depth interviews. Thirty participants were purposively selected based on their expertise as genomics researchers in Uganda. Data were analysed through content analysis along the main themes of the study using a comprehensive thematic matrix, to identify common patterns arising from the narratives. NVivo software 12 was used to support data analysis. Results The return of genetics and genomics research results was generally acceptable to researchers, and some indicated that they had previously returned individual or aggregate results to participants and communities. The main reasons cited for sharing research results with participants included their clinical utility, actionability and overall benefit to society. Ethical considerations for appropriate return of results included a need for effective community engagement, genetic counselling prior to disclosure of the results, adequate informed consent, and proper assessment of the implications of, or consequences of returning of results. However, the approaches to return of results were perceived as unstandardized due to the lack of appropriate regulatory frameworks. Conclusions The return of genetic and genomic research results is generally acceptable to researchers despite the lack of appropriate regulatory frameworks. Ethical considerations for return of genetics and genomics research results are highly divergent, hence the need for national ethical guidelines to appropriately regulate the practice.

scholarly journals Perspectives and ethical considerations for return of genetics and genomics research results: a qualitative study of genomics researchers in Uganda

2021 ◽  
Author(s):  
Joseph Ochieng ◽  
Betty Kwagala ◽  
John Barugahare ◽  
Erisa Mwaka ◽  
Deborah Ekusai-Sebatta ◽  
...  
Keyword(s):  
Content Analysis ◽  
Qualitative Study ◽  
Structured Interview ◽  
Return Of Results ◽  
Ethical Guidelines ◽  
Ethical Considerations ◽  
Research Results ◽  
Active Involvement ◽  
Genomics Research ◽  
Genetics And Genomics

Abstract Background: Return of genetics and genomics research results has been a subject of ongoing global debate on what constitutes socially acceptable and ethical approaches for sharing individual and aggregate genomic results with participants. Such feedback to research participants is an ethical requirement to update participants on results related to the study particularly those that are deemed significant. Although there is limited literature, debate continues in the African setting on what constitutes appropriate practice regarding return of results for genetics and genomics research.The study explored the perspectives and ethical considerations of genomics researchers for return of genetics and genomics research results in a Ugandan setting.Methods: This was a qualitative study of researchers in Uganda using semi-structured interview schedules for In-depth interviews. The researchers were purposively selected based on their active involvement in conducting genetics and genomics research in the country. A total of 30 researchers participated in the study and were interviewed on their perspectives and ethical considerations for the return of genetics and genomics research results. Data were analysed through content analysis along the main themes of the study. Content analysis was conducted using a comprehensive thematic matrix, to identify common patterns arising from the narratives. QSR International NVivo software was used to support data analysis. Findings: Return of genetics and genomics research results was generally acceptable to genomics researchers and some researchers had either returned individual or aggregate results. The main reasons for sharing results included actionability, benefits and the clinical utility of the results to the participants. Ethical considerations for appropriate return of results included a need for effective community engagement, genetic counselling prior to disclosure of the results, adequate informed consent and proper assessment of the implications of, or consequences of returning of results. However, the approaches to return of results is not standardised due to lack of ethics and regulatory guidelines to govern the practice in the country.Conclusion: Return of genetics and genomics research results to participants is generally acceptable to genomics researchers and several researchers have returned either individual or aggregate results. Ethical considerations for return of genetics and genomics research results are numerous though their application is not regulated due to lack of appropriate local ethical guidelines.

scholarly journals Human genetics and genomics research in Ecuador: historical survey, current state, and future directions

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Marlon S. Zambrano-Mila ◽  
Spiros N. Agathos ◽  
Juergen K. V. Reichardt
Keyword(s):  
Human Genetics ◽  
Genetic Diseases ◽  
Historical Record ◽  
Genomic Research ◽  
Current Status ◽  
Forensic Sciences ◽  
Resource Limited ◽  
Genomics Research ◽  
Comprehensive Picture ◽  
Genetics And Genomics

Abstract Background In South America, the history of human genetics is extensive and its beginnings go back to the onset of the twentieth century. In Ecuador, the historical record of human genetics and genomics research is limited. In this context, our work analyzes the current status and historical panorama of these fields, based on bibliographic searches in Scopus, Google Scholar, PubMed, and Web of Science. Results Our results determined that the oldest paper in human genetics coauthored by an Ecuadorian institution originates from the Central University of Ecuador in 1978. From a historical standpoint, the number of articles has increased since the 1990s. This growth has intensified and it is reflected in 137 manuscripts recorded from 2010 to 2019. Areas such as human population genetics, phylogeography, and forensic sciences are the core of genetics and genomics-associated research in Ecuador. Important advances have been made in the understanding of the bases of cancer, some genetic diseases, and congenital disorders. Fields such as pharmacogenetics and pharmacogenomics have begun to be explored during the last years. Conclusions This work paints a comprehensive picture and provides additional insights into the future panorama of human genetic and genomic research in Ecuador as an example of an emerging, resource-limited country with interesting phylogeographic characteristics and public health implications.

scholarly journals Understanding Incidental Findings in the Context of Genetics and Genomics

2008 ◽  
Vol 36 (2) ◽  
pp. 280-285 ◽  
Author(s):  
Mildred K. Cho
Keyword(s):  
Incidental Findings ◽  
Human Subjects ◽  
Association Studies ◽  
Human Migration ◽  
Genomic Research ◽  
Human Subjects Research ◽  
Research Results ◽  
Yield Information ◽  
Individual Research Results ◽  
Genetics And Genomics

Human genetic and genomic research can yield information that may be of clinical relevance to the individuals who participate as subjects of the research. However, no consensus exists as yet on the responsibilities of researchers to disclose individual research results to participants in human subjects research. “Genetic and genomic research” on humans varies widely, including association studies, examination of allele frequencies, and studies of natural selection, human migration, and genetic variation. For the purposes of this article, it is defined broadly to include analysis of DNA collected from humans that has implications for human health (even if the purpose of the study is not medical). This paper addresses both research results of individual research participants that may be an intended product of the research, as well as unanticipated, “incidental” findings.

scholarly journals An improved pig reference genome sequence to enable pig genetics and genomics research

GigaScience ◽  
2020 ◽  
Vol 9 (6) ◽  
Author(s):  
Amanda Warr ◽  
Nabeel Affara ◽  
Bronwen Aken ◽  
Hamid Beiki ◽  
Derek M Bickhart ◽  
...  
Keyword(s):  
Reference Genome ◽  
Genomic Research ◽  
Biomedical Model ◽  
Model Species ◽  
Domestic Pig ◽  
Genomics Research ◽  
Long Read ◽  
Genetics And Genomics ◽  
Genome Assemblies ◽  
Chromosome Level

Abstract Background The domestic pig (Sus scrofa) is important both as a food source and as a biomedical model given its similarity in size, anatomy, physiology, metabolism, pathology, and pharmacology to humans. The draft reference genome (Sscrofa10.2) of a purebred Duroc female pig established using older clone-based sequencing methods was incomplete, and unresolved redundancies, short-range order and orientation errors, and associated misassembled genes limited its utility. Results We present 2 annotated highly contiguous chromosome-level genome assemblies created with more recent long-read technologies and a whole-genome shotgun strategy, 1 for the same Duroc female (Sscrofa11.1) and 1 for an outbred, composite-breed male (USMARCv1.0). Both assemblies are of substantially higher (>90-fold) continuity and accuracy than Sscrofa10.2. Conclusions These highly contiguous assemblies plus annotation of a further 11 short-read assemblies provide an unprecedented view of the genetic make-up of this important agricultural and biomedical model species. We propose that the improved Duroc assembly (Sscrofa11.1) become the reference genome for genomic research in pigs.

scholarly journals International Policies on Sharing Genomic Research Results with Relatives: Approaches to Balancing Privacy with Access

2015 ◽  
Vol 43 (3) ◽  
pp. 576-593
Author(s):  
Rebecca Branum ◽  
Susan M. Wolf
Keyword(s):  
Genetic Risk ◽  
Incidental Findings ◽  
Research Community ◽  
Genomic Research ◽  
Return Of Results ◽  
Research Results ◽  
International Policies

Debate over return of results and incidental findings to participants in genetic and genomic research has exploded over the last decade. At this point, there is wide agreement that investigators have a responsibility to anticipate discovery of findings that may warrant return, to incorporate in protocols a plan for evaluating such findings, and to offer at least some of these results to participants consenting to such return. However, the issue of how to handle questions from a participant’s genetic relatives about their own risk, or whether investigators should alert relatives to a genetic risk they may share, has garnered much less attention. Only recently has the genomic research community begun to debate these questions and offer recommendations.

scholarly journals Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants

2018 ◽  
Vol 46 (1) ◽  
pp. 87-109 ◽  
Author(s):  
Susan M. Wolf ◽  
Emily Scholtes ◽  
Barbara A. Koenig ◽  
Gloria M. Petersen ◽  
Susan A. Berry ◽  
...  
Keyword(s):  
Pediatric Research ◽  
Genomic Research ◽  
Return Of Results ◽  
Exploratory Research ◽  
Clinical Sequencing ◽  
Research Results ◽  
Participant Preferences ◽  
Author Group ◽  
Flow Charts

Returning genomic research results to family members raises complex questions. Genomic research on life-limiting conditions such as cancer, and research involving storage and reanalysis of data and specimens long into the future, makes these questions pressing. This author group, funded by an NIH grant, published consensus recommendations presenting a framework. This follow-up paper offers concrete guidance and tools for implementation. The group collected and analyzed relevant documents and guidance, including tools from the Clinical Sequencing Exploratory Research (CSER) Consortium. The authors then negotiated a consensus toolkit of processes and documents. That toolkit offers sample consent and notification documents plus decision flow-charts to address return of results to family of living and deceased participants, in adult and pediatric research. Core concerns are eliciting participant preferences on sharing results with family and on choice of a representative to make decisions about sharing after participant death.

Return of Research Results: General Principles and International Perspectives

2011 ◽  
Vol 39 (4) ◽  
pp. 583-592 ◽  
Author(s):  
Emmanuelle Lévesque ◽  
Yann Joly ◽  
Jacques Simard
Keyword(s):  
Technological Progress ◽  
Genetic Research ◽  
Return Of Results ◽  
Ethical Guidelines ◽  
Research Results ◽  
Scholarly Publications ◽  
International Perspectives ◽  
Rapid Pace ◽  
Return Of Research Results ◽  
Ethical Norms

Five years ago, an article co-written by some of us (Joly and Simard) presented an emerging trend to disclose some individual genetic results to research participants within the international research community. At the time, ethical norms and scholarly publications on the return of results often did not distinguish between the return of research results in general and the return of unexpected results (also called incidental findings). Both technologies and research practices have evolved significantly. Today whole genome and exome sequencing are increasingly affordable and frequently used in genetic research. Because these techniques produce a vast amount of interpretable and non-interpretable data (i.e., data of unproven significance) about an individual, the issue of how to manage information generated by such technologies needs to be considered. However, the development of international ethical guidelines has not kept up with the rapid pace of technological progress. Indeed developments in genomic biobanking also challenge the duty to disclose research results.

scholarly journals Considerations for Returning Research Results to Culturally Diverse Participants and Families of Decedents

2015 ◽  
Vol 43 (3) ◽  
pp. 569-575
Author(s):  
Nanibaa' A. Garrison
Keyword(s):  
Culturally Diverse ◽  
Genomic Medicine ◽  
Research Participant ◽  
Genomic Research ◽  
Special Focus ◽  
Ethical Considerations ◽  
Research Results ◽  
Diverse Backgrounds ◽  
Considerable Debate ◽  
Genomic Results

As genomic medicine advances and immense amounts of data are generated that may potentially affect human health, there is increasing concern around which of these results matter to participants. There has been considerable debate on which research results to return to participants and when those results should be returned. To date, however, the debates around the return of genomic results have not focused on how those results should be returned, especially when the results come from minority and/or culturally diverse participants. This commentary explores cultural and ethical considerations, and shares insight from my own Navajo background, around returning genomic research results to participants and potentially to families of culturally diverse backgrounds, with a special focus on considerations when the research participant is deceased, and raises points for further discussion.

scholarly journals Participants’ Preferences and Reasons for Wanting Feedback of Individual Genetic Research Results From an HIV-TB Genomic Study: A Case Study From Botswana

2021 ◽  
Vol 16 (5) ◽  
pp. 525-536
Author(s):  
Dimpho Ralefala ◽  
Mary Kasule ◽  
Olivia P. Matshabane ◽  
Ambroise Wonkam ◽  
Mogomotsi Matshaba ◽  
...  
Keyword(s):  
Qualitative Study ◽  
Ethical Issue ◽  
Genetic Research ◽  
Research Results ◽  
Genomic Study ◽  
Genomics Research ◽  
Almost All ◽  
To Receive ◽  
Genetic Results

The feedback of individual results of genomics research is an ethical issue. However, which genetic results African participants would like to receive and why, remains unclear. A qualitative study was conducted to collect data from 44 adolescents and 49 parents/caregivers of adolescents enrolled in a genomic study in Botswana. Almost all the participants wanted to receive genetic results. Parents and caregivers wanted to receive results across all categories of genetic conditions discussed in the study, while adolescents were reluctant to receive results for severe, non-preventable, and unactionable conditions. Participants expressed different reasons for wanting feedback of results, including for awareness, improving lifestyle, accepting one’ situation, and preparing for the future. Our findings also reveal that participants’ context, relations, and empowerment are important to consider in interpreting their preferences for feedback of results.

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